ArticleBMC pediatrics2025
Progressive familial intrahepatic cholestasis type 5 due to a novel mutation in the NR1H4 gene.
Article in BMC pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Integrating bulk and single-cell RNA sequencing with GWAS reveals regulatory networks underpinning complex traits in beef cattle.Journal of animal science and biotechnology · 2026Article
- NR1H4 downregulation facilitates abnormal cell proliferation contributing to IgA nephropathy pathogenesis, with potential clinical implications.Human cell · 2026Article
- Farnesoid x Receptor Deficiency Promotes Hepatocytic Injury in Cyp2c70-Deficient Mice With a Human-Like Bile Acid Composition.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- [Research progress of inherited liver disease in 2025].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Review
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Progressive familial intrahepatic cholestasis type 5 is a rare cause of neonatal cholestasis with low-to-normal levels of gamma-glutamyl transpeptidase. It is caused by mutations in the NR1H4 gene, which encodes farnesoid X receptor, an important transcription factor for bile formation. It also plays an essential role in biliary acid homeostasis. It is known to have a severe course with a rapid progression to end-stage liver failure. Very few cases have been reported worldwide. The authors report the case of a 2-month-old female infant presenting with prolonged jaundice due to progressive familial intrahepatic cholestasis type 5. The laboratory assessment showed a normal level of gamma-glutamyl transpeptidase and an elevated rate of serum bilirubin, transaminase activity, bile acids, and alpha-fetoprotein. Whole-exome sequencing identified a novel homozygous pathologic variant in the NR1H4 gene, described for the first time. At the age of 6 months, the patient died because of liver failure and disseminated intravascular coagulation. In conclusion, this is the first Tunisian case report of PFIC type 5; the diagnosis was made based on a molecular study. The off-label use of ursodeoxycholic acid was ineffective.
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